Characterization of a rare Unverricht–Lundborg disease mutation
Abstract
Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of this mutation at the population level and at the cellular level. The cellular fractionation studies here...
Paper Details
Title
Characterization of a rare Unverricht–Lundborg disease mutation
Published Date
Sep 1, 2015
Volume
4
Pages
68 - 71
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